Incidental Mutation 'R0069:Fam168a'
ID 33101
Institutional Source Beutler Lab
Gene Symbol Fam168a
Ensembl Gene ENSMUSG00000029461
Gene Name family with sequence similarity 168, member A
Synonyms 2610030B18Rik, B930006L02Rik
MMRRC Submission 038360-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.219) question?
Stock # R0069 (G1)
Quality Score 225
Status Validated (trace)
Chromosome 7
Chromosomal Location 100355842-100490863 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 100484618 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Valine at position 252 (A252V)
Ref Sequence ENSEMBL: ENSMUSP00000146839 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049053] [ENSMUST00000107042] [ENSMUST00000207564] [ENSMUST00000207875] [ENSMUST00000208013] [ENSMUST00000216021]
AlphaFold Q8BGZ2
Predicted Effect probably benign
Transcript: ENSMUST00000049053
AA Change: A227V

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000038233
Gene: ENSMUSG00000029461
AA Change: A227V

DomainStartEndE-ValueType
Pfam:TCRP1 1 235 1.4e-112 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000107042
AA Change: A236V

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000102657
Gene: ENSMUSG00000029461
AA Change: A236V

DomainStartEndE-ValueType
Pfam:TCRP1 1 235 1.7e-105 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000207564
AA Change: A121V
Predicted Effect probably benign
Transcript: ENSMUST00000207875
AA Change: A227V

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
Predicted Effect probably benign
Transcript: ENSMUST00000208013
AA Change: A252V

PolyPhen 2 Score 0.404 (Sensitivity: 0.89; Specificity: 0.89)
Predicted Effect probably benign
Transcript: ENSMUST00000216021
AA Change: A227V

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
Meta Mutation Damage Score 0.0714 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.2%
  • 20x: 95.4%
Validation Efficiency 96% (52/54)
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2ml1 A T 6: 128,538,525 (GRCm39) C632S probably damaging Het
Antxr2 T A 5: 98,096,109 (GRCm39) M392L possibly damaging Het
Cd101 A G 3: 100,915,533 (GRCm39) V678A probably benign Het
Clec2g T A 6: 128,925,716 (GRCm39) S42T probably benign Het
Clec2g T C 6: 128,957,274 (GRCm39) probably null Het
Creb1 A G 1: 64,615,367 (GRCm39) I240V possibly damaging Het
D2hgdh G T 1: 93,763,009 (GRCm39) V265L possibly damaging Het
Dctn2 A T 10: 127,113,354 (GRCm39) probably null Het
Diablo A T 5: 123,656,087 (GRCm39) S117R probably damaging Het
Ebf2 A T 14: 67,647,499 (GRCm39) R349S probably damaging Het
Fbn2 T C 18: 58,202,256 (GRCm39) Y1299C probably damaging Het
Gne A C 4: 44,060,099 (GRCm39) V98G probably damaging Het
Hk2 A G 6: 82,713,509 (GRCm39) probably null Het
Ifi206 A T 1: 173,314,413 (GRCm39) V9D probably damaging Het
Ints3 A G 3: 90,307,954 (GRCm39) probably benign Het
Itgal A G 7: 126,909,503 (GRCm39) T56A probably benign Het
Lzts3 T A 2: 130,478,460 (GRCm39) T213S probably benign Het
Map1b A G 13: 99,566,356 (GRCm39) S2122P unknown Het
Mei4 C T 9: 81,907,635 (GRCm39) Q223* probably null Het
Mpzl3 T C 9: 44,979,550 (GRCm39) V167A probably damaging Het
Myo1d A G 11: 80,528,779 (GRCm39) I681T probably damaging Het
Myom2 A G 8: 15,167,624 (GRCm39) T1070A probably benign Het
Nacc1 T A 8: 85,403,828 (GRCm39) I16F probably damaging Het
Nfx1 T C 4: 40,986,688 (GRCm39) probably benign Het
Or10ak12 A T 4: 118,666,887 (GRCm39) V58D probably damaging Het
Or8g33 A G 9: 39,338,188 (GRCm39) Y60H probably damaging Het
Ostm1 A C 10: 42,568,952 (GRCm39) D37A probably benign Het
Pde8a T C 7: 80,968,871 (GRCm39) probably benign Het
Pole2 A T 12: 69,256,661 (GRCm39) V288E probably damaging Het
Poteg T C 8: 27,937,849 (GRCm39) S2P probably benign Het
Ppp2r5c A T 12: 110,534,204 (GRCm39) M356L probably benign Het
Prkdc G A 16: 15,544,368 (GRCm39) S1786N probably benign Het
Prox1 A G 1: 189,893,116 (GRCm39) V443A possibly damaging Het
Prpf6 T A 2: 181,257,756 (GRCm39) probably null Het
Ptger1 A T 8: 84,394,948 (GRCm39) T142S possibly damaging Het
Rad54l2 C A 9: 106,587,564 (GRCm39) V734L possibly damaging Het
Rnpepl1 T A 1: 92,846,620 (GRCm39) N507K possibly damaging Het
Slc38a10 A T 11: 119,997,328 (GRCm39) V722E probably damaging Het
Slfn10-ps A G 11: 82,926,368 (GRCm39) noncoding transcript Het
Slitrk6 A T 14: 110,987,364 (GRCm39) L781H probably damaging Het
Sult1e1 A T 5: 87,727,756 (GRCm39) H175Q probably damaging Het
Ube2e3 C A 2: 78,750,293 (GRCm39) probably benign Het
Vmn1r208 A T 13: 22,956,595 (GRCm39) W301R probably benign Het
Vps13d A G 4: 144,789,133 (GRCm39) I746T probably benign Het
Xpnpep3 T C 15: 81,314,999 (GRCm39) V233A probably benign Het
Zfp329 A T 7: 12,544,859 (GRCm39) S222T probably damaging Het
Zswim6 T C 13: 107,875,098 (GRCm39) noncoding transcript Het
Other mutations in Fam168a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01658:Fam168a APN 7 100,462,180 (GRCm39) missense possibly damaging 0.94
IGL02502:Fam168a APN 7 100,473,417 (GRCm39) missense probably damaging 1.00
IGL03048:Fam168a UTSW 7 100,484,545 (GRCm39) missense probably damaging 0.99
R2509:Fam168a UTSW 7 100,483,391 (GRCm39) critical splice donor site probably null
R3715:Fam168a UTSW 7 100,473,432 (GRCm39) missense probably damaging 0.99
R4518:Fam168a UTSW 7 100,483,247 (GRCm39) missense probably damaging 1.00
R5463:Fam168a UTSW 7 100,484,602 (GRCm39) missense probably benign 0.00
R5486:Fam168a UTSW 7 100,483,376 (GRCm39) missense probably damaging 0.99
R6123:Fam168a UTSW 7 100,473,357 (GRCm39) missense probably damaging 1.00
R8974:Fam168a UTSW 7 100,484,611 (GRCm39) missense probably benign 0.33
R9075:Fam168a UTSW 7 100,484,582 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GCCATGCAAAAGACTGCTTTCCCC -3'
(R):5'- GGACAAGTGTTAAAGCCCCACCTC -3'

Sequencing Primer
(F):5'- AAAAGACTGCTTTCCCCGTCTC -3'
(R):5'- TTAAGAGTGACACTAAAGACCCTG -3'
Posted On 2013-05-09